Canonical Allele Identifier: CA348373600

Gene: BIN1

Linked Data

• MyVariant Identifiers: chr2:g.127806170T>A (hg19) ; chr2:g.127048594T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127048594T>A , CM000664.2:g.127048594T>A	GRCh38
NC_000002.11:g.127806170T>A , CM000664.1:g.127806170T>A	GRCh37
NC_000002.10:g.127522640T>A	NCBI36
NG_012042.1:g.63695A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000352848.8:c.1297A>T	ENSP00000315284.4:p.Asn433Tyr
ENST00000316724.10:c.1714A>T MANE Select	ENSP00000316779.5:p.Asn572Tyr
ENST00000259238.8:c.1426A>T	ENSP00000259238.4:p.Asn476Tyr
ENST00000316724.9:c.1714A>T	ENSP00000316779.5:p.Asn572Tyr
ENST00000346226.7:c.1489A>T	ENSP00000315411.3:p.Asn497Tyr
ENST00000348750.8:c.1162A>T	ENSP00000259237.5:p.Asn388Tyr
ENST00000351659.7:c.1453A>T	ENSP00000315388.3:p.Asn485Tyr
ENST00000352848.7:c.1297A>T	ENSP00000315284.4:p.Asn433Tyr
ENST00000357970.7:c.1585A>T	ENSP00000350654.3:p.Asn529Tyr
ENST00000376113.6:c.1207A>T	ENSP00000365281.2:p.Asn403Tyr
ENST00000393040.7:c.1381A>T	ENSP00000376760.3:p.Asn461Tyr
ENST00000393041.7:c.1360A>T	ENSP00000376761.3:p.Asn454Tyr
ENST00000409400.1:c.1252A>T	ENSP00000386797.1:p.Asn418Tyr
ENST00000462958.5:n.4580A>T
NM_004305.3:c.1297A>T	NP_004296.1:p.Asn433Tyr
NM_139343.2:c.1714A>T	NP_647593.1:p.Asn572Tyr
NM_139344.2:c.1585A>T	NP_647594.1:p.Asn529Tyr
NM_139345.2:c.1453A>T	NP_647595.1:p.Asn485Tyr
NM_139346.2:c.1426A>T	NP_647596.1:p.Asn476Tyr
NM_139347.2:c.1489A>T	NP_647597.1:p.Asn497Tyr
NM_139348.2:c.1381A>T	NP_647598.1:p.Asn461Tyr
NM_139349.2:c.1360A>T	NP_647599.1:p.Asn454Tyr
NM_139350.2:c.1252A>T	NP_647600.1:p.Asn418Tyr
NM_139351.2:c.1162A>T	NP_647601.1:p.Asn388Tyr
XM_005263642.2:c.1759A>T	XP_005263699.1:p.Asn587Tyr
XM_005263643.2:c.1666A>T	XP_005263700.1:p.Asn556Tyr
XM_005263644.2:c.1621A>T	XP_005263701.1:p.Asn541Tyr
XM_005263645.1:c.1594A>T	XP_005263702.1:p.Asn532Tyr
XM_005263646.2:c.1345A>T	XP_005263703.1:p.Asn449Tyr
XM_005263647.2:c.1207A>T	XP_005263704.1:p.Asn403Tyr
XM_005263648.1:c.1090A>T	XP_005263705.1:p.Asn364Tyr
XM_006712425.2:c.1627A>T	XP_006712488.1:p.Asn543Tyr
XM_006712426.2:c.1627A>T	XP_006712489.1:p.Asn543Tyr
XM_006712427.1:c.1549A>T	XP_006712490.1:p.Asn517Tyr
XM_006712428.2:c.1519A>T	XP_006712491.1:p.Asn507Tyr
XM_006712429.2:c.1498A>T	XP_006712492.1:p.Asn500Tyr
XM_006712430.2:c.1474A>T	XP_006712493.1:p.Asn492Tyr
XM_006712431.2:c.1429A>T	XP_006712494.1:p.Asn477Tyr
XM_006712432.2:c.1390A>T	XP_006712495.1:p.Asn464Tyr
XM_006712433.2:c.1300A>T	XP_006712496.1:p.Asn434Tyr
XM_006712434.2:c.1255A>T	XP_006712497.1:p.Asn419Tyr
XM_011510975.1:c.1678A>T	XP_011509277.1:p.Asn560Tyr
NM_001320632.1:c.1207A>T	NP_001307561.1:p.Asn403Tyr
NM_001320633.1:c.1345A>T	NP_001307562.1:p.Asn449Tyr
NM_001320634.1:c.1090A>T	NP_001307563.1:p.Asn364Tyr
NM_001320640.1:c.1474A>T	NP_001307569.1:p.Asn492Tyr
NM_001320641.1:c.1621A>T	NP_001307570.1:p.Asn541Tyr
NM_001320642.1:c.1633A>T	NP_001307571.1:p.Asn545Tyr
XM_005263642.4:c.1759A>T	XP_005263699.1:p.Asn587Tyr
XM_005263643.4:c.1666A>T	XP_005263700.1:p.Asn556Tyr
XM_005263645.2:c.1594A>T	XP_005263702.1:p.Asn532Tyr
XM_006712425.4:c.1627A>T	XP_006712488.1:p.Asn543Tyr
XM_006712426.4:c.1627A>T	XP_006712489.1:p.Asn543Tyr
XM_006712427.2:c.1549A>T	XP_006712490.1:p.Asn517Tyr
XM_006712428.4:c.1519A>T	XP_006712491.1:p.Asn507Tyr
XM_006712429.4:c.1498A>T	XP_006712492.1:p.Asn500Tyr
XM_006712431.4:c.1429A>T	XP_006712494.1:p.Asn477Tyr
XM_006712432.4:c.1390A>T	XP_006712495.1:p.Asn464Tyr
XM_006712433.4:c.1300A>T	XP_006712496.1:p.Asn434Tyr
XM_006712434.4:c.1255A>T	XP_006712497.1:p.Asn419Tyr
XM_011510975.3:c.1678A>T	XP_011509277.1:p.Asn560Tyr
XM_017003819.1:c.1687A>T	XP_016859308.1:p.Asn563Tyr
XM_017003820.2:c.1489A>T	XP_016859309.1:p.Asn497Tyr
XM_017003821.2:c.1384A>T	XP_016859310.1:p.Asn462Tyr
XM_017003822.2:c.1291A>T	XP_016859311.1:p.Asn431Tyr
XM_017003823.1:c.1288A>T	XP_016859312.1:p.Asn430Tyr
XM_017003824.1:c.1219A>T	XP_016859313.1:p.Asn407Tyr
XM_017003825.1:c.1183A>T	XP_016859314.1:p.Asn395Tyr
XM_017003826.1:c.1180A>T	XP_016859315.1:p.Asn394Tyr
XM_017003827.2:c.1087A>T	XP_016859316.1:p.Asn363Tyr
XM_017003828.2:c.1042A>T	XP_016859317.1:p.Asn348Tyr
NM_139343.3:c.1714A>T MANE Select	NP_647593.1:p.Asn572Tyr
NM_001320632.2:c.1207A>T	NP_001307561.1:p.Asn403Tyr
NM_001320633.2:c.1345A>T	NP_001307562.1:p.Asn449Tyr
NM_001320640.2:c.1474A>T	NP_001307569.1:p.Asn492Tyr
NM_001320641.2:c.1621A>T	NP_001307570.1:p.Asn541Tyr
NM_004305.4:c.1297A>T	NP_004296.1:p.Asn433Tyr
NM_139344.3:c.1585A>T	NP_647594.1:p.Asn529Tyr
NM_139345.3:c.1453A>T	NP_647595.1:p.Asn485Tyr
NM_139346.3:c.1426A>T	NP_647596.1:p.Asn476Tyr
NM_139347.3:c.1489A>T	NP_647597.1:p.Asn497Tyr
NM_139348.3:c.1381A>T	NP_647598.1:p.Asn461Tyr
NM_139349.3:c.1360A>T	NP_647599.1:p.Asn454Tyr
NM_139350.3:c.1252A>T	NP_647600.1:p.Asn418Tyr
NM_139351.3:c.1162A>T	NP_647601.1:p.Asn388Tyr